Cowden's disease (CD) is rare multiple hamartoma-neoplasia syndrome. Lhermitte-Duclos disease (LDD) is well known to be a hamartoma of the cerebellum. CD may be accompanied with LDD and other multiple systemic neoplasias. We report here on a case of CD-LDD complex with multiple systemic neoplasia.
Brain ; Cerebellum ; Hamartoma ; Hamartoma Syndrome, Multiple*

No abstract available.
Cerebellum ; Ganglioneuroma* ; Hamartoma Syndrome, Multiple

Cowden's disease, or multiple hamartoma syndrome, is an uncommon autosomal dominant condition characterized by mucocutaneous lesions and systemic malignancies. Lhermitte-Duclos disease, or dysplastic gangliocytoma of the cerebellum, is a rare cerebellar lesion that can cause mass effects in the posterior fossa. It may occur sporadically, or in association with Cowden's syndrome. We report a case of Cowden's disease associated with Lhermitte-Duclos disease in a 49-year-old man who underwent a routine checkup
Hamartoma Syndrome, Multiple ; Humans ; Middle Aged

Sclerotic fibroma is a rare skin neoplasm that can occur seen sporadically or in association with Cowden's disease. Clinically, it presents as asymptomatic flesh-colored or pinkish slow-growing papules or nodules with a wide anatomical distribution. We report a rare case of pedunculated type of sclerotic fibroma resembling soft fibroma, which has not been reported in Korea.
Fibroma ; Hamartoma Syndrome, Multiple ; Korea ; Skin Neoplasms

Tumor of the follicular infundibulum(TFI) is a rare benign adnexal tumor originating from the infundibular portion of hair follicle. Majority of the lesions have been solitary and not recognized clinically before biopsy. TFI can be classified as follows according to the clinical presentation of the tumor (1) solitary tumor, (2) eruptive tumors, (3) TFI associated with other lesions of Cowden's disease, (4) TFI arising in nevus sebaceus, and (5) TFI-like changes in various tumors. We present clinicopathologic features of 2 cases of TFI. One was a solitary form and the other was associated with nevus sebaceus.
Biopsy ; Hair Follicle ; Hamartoma Syndrome, Multiple ; Nevus

Cowden disease (CD), also known as 'multiple hamartoma syndrome', is a rare autosomal dominant disorder with a high risk of breast, thyroid, or genitourinary malignancies. Lhermitte-Duclos Disease (LDD) is believed to be a hamartomatous overgrowth of cerebellar ganglion cells and currently is considered to be a part of CD. However, the report of the association between LDD and CD has been very unusual. We have recently experienced a 53-year-old man with LDD who had acral keratosis of extremities, gastrointestinal polyposis, and multinodular goiter. To our knowledge, it is the second case of CD associated with LDD in Korea. We report it with a review of the literatures.
Breast ; Extremities ; Ganglion Cysts ; Goiter ; Hamartoma ; Hamartoma Syndrome, Multiple* ; Humans ; Keratosis ; Korea ; Middle Aged ; Thyroid Gland

We report a case of dysplastic gangliocytoma of the cerebellum(Lhermitte-Duclos disease) that can cause progressive mass effect in the posterior fossa. Cowden disease is a rare autosomal dominant disorder characterized by mucocutaneous hamartoma and high incidences of systemic malignancies. The patient had no mucocutaneous lesions indicating Cowden disease. With recent advances in molecular genetics, the association between Lhermitte-Duclos disease and Cowden disease has been recognized, it is considered that Cowden disease is a new phakomatosis. Recognition of this association has direct clinical relevance and long term follow up may lead to the early detection of malignancy.
Ganglioneuroma* ; Hamartoma ; Hamartoma Syndrome, Multiple* ; Humans ; Incidence ; Molecular Biology ; Neurocutaneous Syndromes

Cowden syndrome is a rare autosomal dominant disorder characterized by mucocutaneous alterations including multiple facial trichilemmomas, oral mucosal papillomatosis, and acral keratoses. Extracutaneous lesions include polyposis of the gastrointestinal tract, and other multiple hamartoma of the internal organs. A 39 year-old man presented with multiple verruca-like papules and lichenified patches on the face, one year ago. He had been treated for atopic dermatitis for more than 10 years. Although he had been treated in accordance with atopic dermatitis for 1 year, his skin lesions had not improved, so a skin biopsy was performed. The skin biopsy specimen revealed the typical finding of trichilemmoma. Colonoscopy diagnosed diffuse colorectal polyposis. The clinical and hisopathologic findings were consistent with Cowden syndrome. We, herein, report a case of Cowden syndrome with atopic dermatitis.
Adult ; Biopsy ; Colonoscopy ; Dermatitis, Atopic ; Gastrointestinal Tract ; Hamartoma ; Hamartoma Syndrome, Multiple* ; Humans ; Keratosis ; Papilloma ; Skin

Gastric polyps are uncommon. The incidence of gastric polyps has been reported between 0.4% and 2.0%. Two histologically distinct forms of gastric polyps are hyperplastic polyps and adenomatous polyps. Hyperplastic polyps are multiple in up to a half of cases. When the polyps number is more than 50, the term "Hyperplastic polyposis" is applied and such cases are even more rare. Polypoid lesions of the stomach have heen reported in many of the polyposis syndromes, such as Familial polyposis coli, Gardners syndrome, Peutz-Jeghers syndrame, Juvenile polyposis and Cowdens disease. Only 1 case of gastric hyperplastic polyposis associated with colonic hyperplastic polyposis has been reported. The patient under study is not included in any polyposis syndrome and has no familial tendency, We report a case of gastric hyperplastic polyposis with colonic hyperplastic polyposis with literatures reviews.
Adenomatous Polyposis Coli ; Adenomatous Polyps ; Colon* ; Gardner Syndrome ; Hamartoma Syndrome, Multiple ; Humans ; Incidence ; Polyps ; Stomach

Lhermitte-Duclos disease, or dysplastic gangliocytoma of the cerebellum, is a peculiar hamartoma arising from the cerebellar cortex. Cowden disease, which is also termed as a multiple hamartoma-neoplasia syndrome, is an unusual autosomal dominant disorder characterized by mucocutaneous lesions, including facial papules, gingival papillomas, and acral keratoses. Other systemic hamartomas are frequently present, and there are high incidence of breast, thyroid, and genitourinary malignancies. Recently, it is accepted that Lhermitte-Duclos disease is a part of Cowden disease, a new phakomatosis. Recognition of this association has clinical significance, because diligent long-term follow-up monitoring of individuals with Lhermitte-Duclos disease and Cowden disease may lead to the early detection of malignancy.
Breast ; Cerebellar Cortex ; Follow-Up Studies ; Hamartoma ; Hamartoma Syndrome, Multiple* ; Incidence ; Keratosis ; Neurocutaneous Syndromes ; Papilloma ; Thyroid Gland